The two main goals of the Thomsen Laboratory are to elucidate the role of the brain in the initiation and progression of amyotrophic lateral sclerosis (ALS) in order to develop therapeutic strategies that can be translated to the clinic, and to investigate the potential link between traumatic brain injury and ALS and other neurodegenerative diseases, such as chronic traumatic encephalopathy.
ALS is characterized by progressive loss of upper and lower motor neurons, leading to muscle atrophy, paralysis and death within three to five years from onset. There is no effective treatment, due in large part to a lack of understanding of the etiology of this devastating disease. The majority (90–95 percent) of ALS cases present as sporadic, and of the remaining familial cases, about 20 percent have been linked to mutations in the superoxide dismutase-1 (SOD1) gene. The absence of SOD1 does not cause motor neuron disease, but transgenic rodents over-expressing mutant human SOD1 (SOD1G93A) recapitulate the hallmarks of ALS in patients, providing evidence of an acquired toxicity of mutant SOD1. The compromised health of cortical motor neurons may underlie the initiation of ALS. As such, the cortex represents an important area of ALS research and a promising therapeutic target.
The Thomsen Laboratory is affiliated with the Cedars-Sinai Board of Governors Regenerative Medicine Institute and the Department of Biomedical Sciences.